I think my mom and half sister have CF...

[abloedel]

All - As some of you know, I was dx'd just this past March at the age of 36 with CF. It should have been "caught" MANY years ago, but nothing I can do about it now....anyway, my mother remarried and had two other children with a different "father" (this man has always been my "dad" so it's hard for me to point out the biological difference) but my MUCH younger (half) sister has had nearly an identical medical history as mine in the past as well as presently. Since she is only 22, I am urging her to go in and at least have a sweat test done. She is resistant to the possiblitly that she might have it since we have different "biological" fathers. Does anyone have any stats on what the probabilities could be since obviously our mother is at least a carrier??? I think my mother might have CF has well (she is 56) but she refuses to go in for the test. My mom has had many problems with "mucus" (not lung specific) and has had glands removed to slow her muchs production. My daugter (who is 16) had the sweat test, which came back at 35, doesn't really exhibit "typcial" CF symptoms, but interstingly, both my mother and "half" sister do...althought they apparently choose not to see that. I still ultimately want to have my daughter genetically tested through AMBRY, but my insurance doesn't cover the $1000+ that would cost.

Anyone have any suggestions or guidance on how I can get them (my sister and mother) in to the CF clinic to be tested?

Amy
36 w/ CF

 

[JazzysMom]

There is a woman (I belive her name is Jen) who is pregnant & due soon. Her stepson has CF & she found out that the baby she is carrying has CF. Now that is the similar situation you are looking for. In the other case (not yours) the Moms of the CFers are different, the Dad is the same. What are the chances, huh? Maybe Jen will seee this & respond. If not look for the posts about the stepson.

 

[jleigh]

Amy,

You can show to your mom and sis that the chances of a person being a carrier (i.e. your biological father & mother, and stepfather) are greater than they may think. Here is a link to check out and it shows the carrier frequency by each ethnic/population group.

http://laboratory-manager.advanceweb.com/common/editorial/editorial.aspx?CC=7667

We have actually gone though some interesting things ourselves because I was first diagnosed with CF at age 31, (my sweat test was only 40 BTW) about a year after my 4th (and last) child was born. My oldest son has exhibited certain "signs" of CF as well (he's 11 now) and we decided to have his genetics run. It came back with one DF508 and one S1426P, which is a very rare mutation and has only been documented once in the literature. We then had my husband's genetics run and his came back with the S1426P and a novel variation that until now has been previously undescribed! So now we will have to have our other 3 children tested for carrier status (they all seem very healthy) so we can have this information for them when they go on to have families of their own.

If you strongly feel this about your mom & sis, I would persist in having them tested.

GL and let us know how it goes!

Jen
35 w/cf

 

[roblake29]

Well Amy, if your mum is a carrier and has a child with someone there is a 1% (1/100) chance of the child having CF. As there is a 1/25 chance of your stepdad being a carrier, and then a 1/4 percent chance of the child having CF from 2 CF carriers, multiply those figures and you've got 1/100. Unlikely, but its still a real possibility, especially if you see symptoms.

Rob 24 wcf